Because Ryan & I were very much discussing starting a family at the time of her diagnosis, I felt I wanted to know if I carried the gene. And I said if I did, it may change my mind about having biological children. I made a call to the office seeing my mother and left a voicemail that I would like a call back from someone to discuss genetic testing.

I had many reasons for wanting to know if I carry the gene. First and foremost, I’ve already received a surprising, devastating diagnosis once already in my life. If I can know something is lurking around the corner, I’d rather know about it. With that said, if I *do* know, I can start annual screenings now which will allow for earlier intervention with medications if necessary. I also wanted to know if I carry the EOD gene because symptoms can begin at an age younger than I am now. Is it worth the risk to bring a child into the world only to leave it (and my husband) possibly before my time? Or to have my husband need to be both a father to our child and a caregiver to me? That’s a lot to ask or expect of someone, even your life partner. I would do it in a heartbeat, and I know Ryan would too. But that doesn’t mean it’s what I want if it can in some way be prevented.

In the weeks & months that followed I had this discussion with many people. And those people all had different opinions of what I should do and what they would do. I made sure my mom was ok with me having the test. The guilt she felt at my diabetes diagnosis was palpable. While we are definitely seeing the effects of the Alzheimers not just on her memory but also her mood, she is still my mom and I value her feelings. Ryan said he understood my reasoning and would support me however necessary. My best friend reminded me that knowing doesn’t change the outcome and even if I know that I WILL develop EOD, there’s no knowing WHEN. She also reminded me that I may not carry the gene but could get hit by a bus at any time so it’s a moot point. This is why she’s my best friend – she knows how to keep it real.

So it’s been sitting in the back of my brain for almost a year. Some days, like the ones where I attend a support group with Ryan and my dad, or the ones when I attend doctors appointments with my mom, I think of it more. I felt not calling back when no one returned my call was so completely out of character for me that it spoke of what my gut was telling me. But today, I got a call back.

It’s taken over a year and we don’t know how or where the disconnect happened but I spoke to someone at the genetic center in my local hospital today. We discussed my chronic illness and my mother’s diagnosis. We discussed me wanting to start a family. We discussed what insurance will cover, what they might look for and other tests we may look into running. And now? I didn’t make an appointment.

First off, I need to speak to my parents. In order to test me, they also have to test my mom. I suppose that seems rather obvious. But the reality? I’m fucking terrified. And I’ve been living terrified for quite some time. On top of being scared of EOD and freaking out anytime I do something that could be seen as a symptom (misplacing things, unable to find a word, forgetting something that seems important), I’m scared of becoming a mom!

Now in reality, that’s a post for another time, and we all know I probably won’t ever write it (right Zach?). But that fear isn’t a secret either. It’s something Ry & I discuss regularly – the fears we have over me getting and being pregnant; the fear of being responsible for another human being for its whole life; the fear of where will we find the money?!?! But those are all real, valid fears. And if we weren’t the slightest bit terrified at the thought of parenthood, I’d probably be even more concerned than I am.

So now I allow it to come to the forefront of my thinking. I need to decide if I’m more scared to know or more scared NOT to know. I don’t have that answer. I’m not even sure how I will arrive at it to be honest. As I said, I’ve discussed this with family, friends and even my therapist. But no one can make the decision for me although I know I have tremendous support no matter how this all shakes out. So the next few days, I’ll let it marinate. I’ll talk Ryan’s ear off incessantly with pros & cons. I’ll most likely lose some sleep too (I’m getting used to that these days – JUST TURN OFF BRAIN! SLEEP IS GOOOOOD!). Until then, I would like to hear what *you*would do in my position. And definitely why. Like I said, my decision, but as the Beatles sang, “I get by with a little help from my friends.” xo

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2 responses

Beth

If it were me, I would want to know. I would have to know as much as possible about the disease, the likelihood I would get it etc etc. That being said, when Jack was diagnosed with Hypopituitarism, I took his endo’s word that they don’t know what caused it and left it at that. I still feel guilty sometimes. I still research it sometimes. I know other people with the diagnosis have gone through genetic testing. A lot of those people also have other diagnoses too. I know since having a child, my memory has gone to shit! I’m sure part of it is sleep deprivation and hell, I’m almost 40 so that probably doesn’t help either. It’s late, and I’m rambling.

I remember, when Duffy was pregnant, there was some test where we weren’t sure whether we should take it or not — there was a slight chance the test, itself would harm the baby, and no test results would possibly change our decisions about parenthood.

But we still chose to get the test, just because, ultimately, we felt it was better to be prepared if anything might be up (all told, all was good, and you’ve seen pictures of the La — she’s exactly what you’d anticipate a 5 year old going on 16 to be). Evil diseases like this are awful . . . but I’d still want to be able to ensure that those nearest to me know what I want. And I hold SIGNIFICANT hope that future generations will have better treatment for any given malady we face, ourselves.